-
Open Access Emergency Medicine : OAEM 2024The objective of this review was to explore parents' experiences and information needs regarding management of their child with an intellectual and/or developmental... (Review)
Review
Seeking Care for Children with Intellectual and/or Developmental Disabilities in the Emergency Department: A Mixed Methods Systematic Review of Parents' Experiences and Information Needs.
The objective of this review was to explore parents' experiences and information needs regarding management of their child with an intellectual and/or developmental disability (IDD) in the emergency department (ED). We searched six electronic databases and grey literature to identify primary studies in English published since 2000. We synthesized quantitative and qualitative outcome data simultaneously using a convergent integrated approach and used a Mixed Methods Appraisal Tool (MMAT) to assess methodological quality of the included studies. Nine articles derived from seven studies were included (3 qualitative, 3 quantitative, 1 mixed method). Four main themes related to parents' self-reported experiences were identified: 1) appropriateness of the ED to manage and support their child; 2) acknowledgement/recognition of their child's IDD and incorporation of those considerations into overall care and management; 3) managing and navigating the ED environment; and 4) decision to disclose their child's condition when visiting the ED. Two articles provided data relevant to information needs, highlighting parents' desire to have resources supporting ED orientation and access to services within and outside of the ED setting. From the limited number of studies, it was evident that parents wanted better communication with healthcare providers and a greater understanding by ED staff around physical space settings needed to support their child. Resources supporting ED staff and parents to communicate effectively and work together can ensure that children with IDDs care needs are met. Further research into understanding parents' experiences and information needs related to managing a child with an IDD in the ED is needed to guide the development of effective resources.
PubMed: 38912093
DOI: 10.2147/OAEM.S450191 -
Frontiers in Cellular Neuroscience 2024RASopathies are a group of genetic disorders caused by mutations in genes encoding components and regulators of the RAS/MAPK signaling pathway, resulting in...
RASopathies are a group of genetic disorders caused by mutations in genes encoding components and regulators of the RAS/MAPK signaling pathway, resulting in overactivation of signaling. RASopathy patients exhibit distinctive facial features, cardiopathies, growth and skeletal abnormalities, and varying degrees of neurocognitive impairments including neurodevelopmental delay, intellectual disabilities, or attention deficits. At present, it is unclear how RASopathy mutations cause neurocognitive impairment and what their neuron-specific cellular and network phenotypes are. Here, we investigated the effect of RASopathy mutations on the establishment and functional maturation of neuronal networks. We isolated cortical neurons from RASopathy mouse models, cultured them on multielectrode arrays and performed longitudinal recordings of spontaneous activity in developing networks as well as recordings of evoked responses in mature neurons. To facilitate the analysis of large and complex data sets resulting from long-term multielectrode recordings, we developed MATLAB-based tools for data processing, analysis, and statistical evaluation. Longitudinal analysis of spontaneous network activity revealed a convergent developmental phenotype in neurons carrying the gain-of-function Noonan syndrome-related mutations and . The phenotype was more pronounced at the earlier time points and faded out over time, suggesting the emergence of compensatory mechanisms during network maturation. Nevertheless, persistent differences in excitatory/inhibitory balance and network excitability were observed in mature networks. This study improves the understanding of the complex relationship between genetic mutations and clinical manifestations in RASopathies by adding insights into functional network processes as an additional piece of the puzzle.
PubMed: 38910965
DOI: 10.3389/fncel.2024.1388409 -
Reproductive Biology and Endocrinology... Jun 2024Premutations in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene, defined as between 55 and 200 CGGs, have been implicated in fragile X-associated primary ovarian...
BACKGROUND
Premutations in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene, defined as between 55 and 200 CGGs, have been implicated in fragile X-associated primary ovarian insufficiency (FXPOI). Only 20% of female premutation carriers develop early ovulatory dysfunction, the reason for this incomplete penetrance is unknown. This study validated the mathematical model in premutation alleles, after assigning each allele a score representing allelic complexity. Subsequently, allelic scores were used to investigate the impact of allele complexity on age at amenorrhea for 58 premutation cases (116 alleles) previously published.
METHODS
The allelic score was determined using a formula previously described by our group. The impact of each allelic score on age at amenorrhea was analyzed using Pearson's test and a contour plot generated to visualize the effect.
RESULTS
Correlation of allelic score revealed two distinct complexity behaviors in premutation alleles. No significant correlation was observed between the allelic score of premutation alleles and age at amenorrhea. The same lack of significant correlation was observed regarding normal-sized alleles, despite a nearly significant trend.
CONCLUSIONS
Our results suggest that the use of allelic scores combination have the potential to explain female infertility, namely the development of FXPOI, or ovarian dysfunction, despite the lack of correlation with age at amenorrhea. Such a finding is of great clinical significance for early identification of females at risk of ovulatory dysfunction, enhancement of fertility preservation techniques, and increasing the probability for a successful pregnancy in females with premutations. Additional investigation is necessary to validate this hypothesis.
Topics: Humans; Female; Fragile X Mental Retardation Protein; Amenorrhea; Alleles; Primary Ovarian Insufficiency; Adult; Heterozygote; Mutation; Fragile X Syndrome; Age Factors; Young Adult; Adolescent
PubMed: 38907244
DOI: 10.1186/s12958-024-01227-5 -
Preventive Medicine Jun 2024Utilizing national longitudinal data, this study examines how polygenic depression risk and childhood abuse interactively influence the life-course development of...
OBJECTIVE
Utilizing national longitudinal data, this study examines how polygenic depression risk and childhood abuse interactively influence the life-course development of depressive conditions from middle to late adulthood.
METHOD
Data from 7512 participants (4323 females and 3189 males) of European ancestry aged 51-90, retrieved from the U.S. Health and Retirement Study (1992-2020), were analyzed. Childhood physical abuse and polygenic depression score were the primary predictors. Depressive symptoms were assessed using the Center for Epidemiologic Studies-Depression (CESD) scale, and clinical depression risk was a binary indicator. Growth-curve linear mixed and logit mixed-effects models were conducted for analysis.
RESULTS
Increasing polygenic depression scores were associated with elevated CES-D levels and potential risks of clinical depression. Males experienced more detrimental effects of childhood abuse on depression development from ages 51 to 90 years. In contract, non-maltreated females generally exhibited higher depressive symptoms and clinical depression risk than males. A significant interactive effect was found between polygenic depression risk and childhood abuse among males. Higher depression levels and clinical risk were observed with increasing polygenic depression score among maltreated males, surpassing those of females with standardized polygenic score ≥0 from age 51 to 90 years.
CONCLUSIONS
The interaction between childhood abuse and genetic factors significantly shaped lifelong depression trajectories in males, while the negative impact of abusive parenting remained constant regardless of polygenic depression risk among females. Individualized prevention and intervention strategies could be crucial in mitigating lifelong depression development, especially for high-genetic-risk males with a history of childhood physical abuse.
PubMed: 38906275
DOI: 10.1016/j.ypmed.2024.108048 -
Journal of Developmental and Behavioral... Jun 2024To identify the impact of social determinants on the experiences of children with disabilities and their families during the COVID-19 pandemic from the perspective of...
OBJECTIVE
To identify the impact of social determinants on the experiences of children with disabilities and their families during the COVID-19 pandemic from the perspective of parents/guardians.
METHODS
A mixed-methods study engaged parents/guardians of children with Individualized Education Programs (IEPs) in July to August 2021 at a developmental/behavioral pediatrics clinic in 1 urban academic medical center. All parents/guardians completed study-specific surveys on experiences and impact of COVID-19. A subset completed semi-structured interviews. Analysis included descriptive statistics and Fisher exact tests for survey questions and thematic analysis to code interviews and identify themes. Results were corroborated by experts in developmental/behavioral pediatrics and special education.
RESULTS
Participants included 24 parents/guardians representing 27 children (mean = 7.37 years). A majority attended public school (78%) and identified as non-White (78%). Most commonly, the children's disabilities were autism (52%), attention-deficit hyperactivity disorder (37%), and speech/language impairment (33%). The services received by children most commonly were speech/language (89%) and physical/occupational (70%) therapies. Five themes emerged about the impact of social determinants on experiences during COVID-19 related to: adapting to disruption of routines, attendance/engagement in learning, interruption of IEP services, support for children and families, and challenges with technology.
CONCLUSION
Social determinants, such as housing, income, insurance, and quality of education, affected the experiences of families and their ability to adapt to the needs of children with disabilities in the setting of COVID-19 pandemic-related changes.
PubMed: 38905221
DOI: 10.1097/DBP.0000000000001294 -
Work (Reading, Mass.) Jun 2024There is increasing evidence that employment, or the lack thereof, affects an individual's health. Consequently, employment provides people with physical disabilities...
BACKGROUND
There is increasing evidence that employment, or the lack thereof, affects an individual's health. Consequently, employment provides people with physical disabilities (PWPD) with financial independence, enhances their well-being and self-worth, and facilitates a sense of purpose. People with physical disabilities often retain job skills and motivation to return to work after acquiring a disability. Their vocational rehabilitation and job accommodation needs likely differ from people with disabilities resulting from developmental, sensory, cognitive, and mental health conditions. To better target the needs of PWPD and improve vocational rehabilitation services, it is crucial to identify the modifiable factors that influence their employment outcomes.
OBJECTIVE
This research aimed to examine systematically the client-, employer-, and context-related facilitators and barriers to employment experienced by PWPD.
METHODS
We recruited to this cross-sectional study, PWPD from the Midwestern United States who returned to work after injury or illness. An online survey collected data on demographic characteristics and educational history; disability and functional status; supports, facilitators and barriers to employment; and job information and accommodations.
RESULTS
347 working-age PWPD completed the survey; at the time of survey completion, 270 were working and 77 were not. People with physical disabilities who reported social support and encouragement at work were more likely to be working than respondents who did not. Negative attitudes of supervisors and colleagues, inaccessible work environments, and inflexible work schedules were barriers to employment. Important reasons for working included financial needs, a sense of purpose, and self-worth.
CONCLUSIONS
Results provide insights into the importance of social supports in the work environment. Novel approaches are needed to develop supportive relationships with supervisors and coworkers.
PubMed: 38905070
DOI: 10.3233/WOR-220721 -
Frontiers in Digital Health 2024With advancements in communication technologies and internet connectivity, avatar robots for children who cannot attend school in person due to illness or disabilities...
INTRODUCTION
With advancements in communication technologies and internet connectivity, avatar robots for children who cannot attend school in person due to illness or disabilities have become more widespread. Introducing these technologies to the classroom aims to offer possibilities of social and educational inclusion. While implementation is still at an experimental level, several of these avatars have already been introduced as a marketable service. However, various obstacles impede widespread acceptance.
METHODS
In our explorative qualitative case study we conducted semi-structured interviews with eight individuals involved in the implementation of the avatar robots AV1 in Germany and eleven participants involved with implementing OriHime in Japan. We analyzed and compared implementation processes, application areas, access and eligibility, and the potential and limitations of avatars at schools.
RESULTS
We identified structural similarities and differences in both countries. In the German cases the target is defined as temporary use for children who cannot attend school in person because of childhood illness, with the clear goal of returning to school. Whereas in Japan OriHime is also implemented for children with physical or developmental disabilities, or who cannot attend school in person for other reasons.
DISCUSSION
Our study suggests that avatar technologies bear high potential for children to stay socially and educationally connected. Yet, structures need establishing that grant equal access to avatar technologies. These include educational board regulations, budgets for funding avatar technologies and making them accessible to the public, and privacy protection standards that are adequate, yet do not create implementation hurdles that are too high. Furthermore, guidelines or training sessions on technical, educational and psychosocial aspects of including avatar technologies in the classroom for teachers are important for successful implementation. Since our Japanese cases suggest that expanding the area of application beyond childhood illness is promising, further research on the benefits for different groups is needed.
PubMed: 38904032
DOI: 10.3389/fdgth.2024.1273415 -
Research Square Jun 2024The most important factor that complicates the work of dysmorphologists is the significant phenotypic variability of the human face. Next-Generation Phenotyping (NGP)...
The most important factor that complicates the work of dysmorphologists is the significant phenotypic variability of the human face. Next-Generation Phenotyping (NGP) tools that assist clinicians with recognizing characteristic syndromic patterns are particularly challenged when confronted with patients from populations different from their training data. To that end, we systematically analyzed the impact of genetic ancestry on facial dysmorphism. For that purpose, we established the GestaltMatcher Database (GMDB) as a reference dataset for medical images of patients with rare genetic disorders from around the world. We collected 10,980 frontal facial images - more than a quarter previously unpublished - from 8,346 patients, representing 581 rare disorders. Although the predominant ancestry is still European (67%), data from underrepresented populations have been increased considerably via global collaborations (19% Asian and 7% African). This includes previously unpublished reports for more than 40% of the African patients. The NGP analysis on this diverse dataset revealed characteristic performance differences depending on the composition of training and test sets corresponding to genetic relatedness. For clinical use of NGP, incorporating non-European patients resulted in a profound enhancement of GestaltMatcher performance. The top-5 accuracy rate increased by +11.29%. Importantly, this improvement in delineating the correct disorder from a facial portrait was achieved without decreasing the performance on European patients. By design, GMDB complies with the FAIR principles by rendering the curated medical data findable, accessible, interoperable, and reusable. This means GMDB can also serve as data for training and benchmarking. In summary, our study on facial dysmorphism on a global sample revealed a considerable cross ancestral phenotypic variability confounding NGP that should be counteracted by international efforts for increasing data diversity. GMDB will serve as a vital reference database for clinicians and a transparent training set for advancing NGP technology.
PubMed: 38903062
DOI: 10.21203/rs.3.rs-4438861/v1 -
Epilepsy Currents 2024
PubMed: 38898905
DOI: 10.1177/15357597241238901 -
Seizure May 2024People with Intellectual Disabilities (PwID) are twenty times more likely than general population to have epilepsy. Guidance for prescribing antiseizure medication (ASM)...
INTRODUCTION
People with Intellectual Disabilities (PwID) are twenty times more likely than general population to have epilepsy. Guidance for prescribing antiseizure medication (ASM) to PwID is driven by trials excluding them. Levetiracetam (LEV) is a first-line ASM in the UK. Concerns exist regarding LEV's behavioural and psychological adverse effects, particularly in PwID. There is no high-quality evidence comparing effectiveness and adverse effects in PwID to those without, prescribed LEV.
METHODS
Pooled casenote data for patients prescribed LEV (2000-2020) at 18 UK NHS Trusts were analysed. Demographics, starting and maximum dose, adverse effects, dropouts and seizure frequency between ID (mild vs. moderate-profound (M/P)) and general population for a 12-month period were compared. Descriptive analysis, Mann-Whitney, Fisher's exact and logistic regression methods were employed.
RESULTS
173 PwID (mild 53 M/P 120) were compared to 200 without ID. Mean start and maximum dose were similar across all groups. PwID (Mild & M/P) were less likely to withdraw from treatment (P = 0.036). No difference was found between ID and non-ID or between ID groups (Mild vs M/P) in LEV's efficacy i.e. >50 % seizure reduction. Significant association emerged between ID severity and psychiatric adverse effects (P = 0.035). More irritability (14.2 %) and aggression (10.8 %) were reported in M/P PwID.
CONCLUSION
PwID and epilepsy have high rates of premature mortality, comorbidities, treatment resistance and polypharmacy but remain poorly researched for ASM use. This is the largest studied cohort of PwID trialled on LEV compared to general population controls. Findings support prescribing of LEV for PwID as a first-line ASM.
PubMed: 38897161
DOI: 10.1016/j.seizure.2024.05.010